ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)

dbSNP: rs121918230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227592 SCV003924947 likely pathogenic not provided 2022-11-14 criteria provided, single submitter clinical testing Published functional studies suggest the Y297C variant reduces CoQ production to a moderate level (Lpez-Martn; Desbats et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17855635, 33426503, 16116126, 17374725, 20495179, 17332886, 27493029, 31660881, 23816342, 29296619, 35483523, 16400613)
OMIM RCV000001501 SCV000021656 pathogenic Coenzyme Q10 deficiency, primary, 1 2010-10-01 no assertion criteria provided literature only
GeneReviews RCV000416386 SCV000494124 not provided Coenzyme Q10 deficiency no assertion provided literature only

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